Antithrombin Deficiency and Thrombosis: A Wide Clinical Scenario Reported in a Single Institution

References

• Rosenberg RD, Damus PS. The purification and mechanism of action of human antithrombin-heparin cofactor. J Biol Chem. 1973;248(18):6490–6505. doi:10.1016/S0021-9258(19)43472-8
   PubMed Web of Science ®Google Scholar
• Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh. 1965;13:516–530.
   PubMedGoogle Scholar
• Tsuchida T, Hayakawa M, Kawahara S, Kumano O. Thrombin generation capacity is enhanced by low antithrombin activity and depends on the activity of the related coagulation factors. Thromb J. 2022;20(1). doi:10.1186/s12959-022-00388-w
   PubMed Web of Science ®Google Scholar
• Colucci G, Tsakiris D. Thrombophilia screening revisited: an issue of personalized medicine. J Thromb Thrombolysis. 2020;49(4):618–629. doi:10.1007/s11239-020-02090-y
   PubMed Web of Science ®Google Scholar
• Martinelli I, Mannucci PM, De Stefano V, et al. Different risks of thrombosis in four coagulation defects associated with inherited thrombophilia: a study of 150 families. Blood. 1998;92(7):2353–2358. doi:10.1182/blood.V92.7.2353
   PubMed Web of Science ®Google Scholar
• Pabinger I, Thaler J. How I treat patients with hereditary antithrombin deficiency. Blood. 2019;134(26):2346–2353. doi:10.1182/blood.2019002927
   PubMed Web of Science ®Google Scholar
• Bravo-Pérez C, Toderici M, Chambers JE, et al. Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect. JCI Insight. 2022;7(19):e161430. doi:10.1172/jci.insight.161430
   PubMed Web of Science ®Google Scholar
• Bravo-Perez C, De la Morena Barrio ME, Vicente V, Corral J. Antithrombin deficiency as a still underdiagnosed type of thrombophilia: a primer for internists. Pol Arch Intern Med. 2020;130(10):868–877. doi:10.20452/pamw.15371
   PubMedGoogle Scholar
• Patnaik MM, Moll S. Inherited antithrombin deficiency: a review. Haemophilia. 2008;14(6):1229–1239. doi:10.1111/j.1365-2516.2008.01830.x
   PubMed Web of Science ®Google Scholar
• De la Morena‑Barrio ME, Martinez‑Martinez I, de Cos C, et al. Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect. J Thromb Haemost. 2016;14(8):1549–1560. doi:10.1111/jth.13372
   PubMed Web of Science ®Google Scholar
• De la Morena-Barrio ME, Gindele R, Bravo-Pérez C, et al. High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: description of new syndrome. Am J Hematol. 2021;96(11):1363–1373. doi:10.1002/ajh.26304
   PubMed Web of Science ®Google Scholar
• Muller-Knapp M, Classen CF, Knofler R, et al. Coexistence of antithrombin deficiency and suspected inferior vena cava atresia in an adolescent and his mother: case report and clinical implications. Thromb J. 2021;19:105–112. doi:10.1186/s12959-021-00360-0
   PubMed Web of Science ®Google Scholar
• Lukaseder J, Feldman R, Steiner A. Recurrent vein thrombosis with agenesis of the inferior vena cava and AT III deficiency. Phlebologie. 2017;46(01):31–33. doi:10.12687/phleb2345-1-2017
   Google Scholar
• De la Morena‑Barrio B, Orlando C, de la Morena‑Barrio ME, Vicente V, Jochmans K, Corral J. Incidence and features of thrombosis in children with inherited antithrombin deficiency. Haematologica. 2019;104(12):2512–2518. doi:10.3324/haematol.2018.210666
   PubMed Web of Science ®Google Scholar
• Di Minno MND, Ambrosino P, Ageno W, Rosendaal F, Di Minno G, Dentali F. Natural anticoagulants deficiency and the risk of venous thromboembolism: a meta‑analysis of observational studies. Thromb Res. 2015;135(5):923–932. doi:10.1016/j.thromres.2015.03.010
   PubMed Web of Science ®Google Scholar
• Croles FN, Borjas‑Howard J, Nasserinejad K, Leebeek FW, Meijer K. Risk of venous thrombosis in antithrombin deficiency: a systematic review and Bayesian meta‑analysis. Semin Thromb Hemost. 2018;44:315–326. doi:10.1055/s-0038-1625983
   PubMed Web of Science ®Google Scholar
• Bauer KA, Nguyen-Cao TM, Spears JB. Issues in the diagnosis and management of hereditary antithrombin deficiency. Ann Pharmacother. 2016;50(9):758–767. doi:10.1177/1060028016651276
   PubMed Web of Science ®Google Scholar
• Elsebaie MAT, van Es N, Langston A, Büller HR, Gaddh M. Direct oral anticoagulants in patients with venous thromboembolism and thrombophilia: a systematic review and meta-analysis. J Thromb Haemost. 2019;17(4):645–656. doi:10.1111/jth.14398
   PubMed Web of Science ®Google Scholar
• Soerajja Bhoelan B, Mulder R, Lukens MV, Meijer K. Direct oral anticoagulants in antithrombin deficiency: initial experience in a single center. Thromb Haemost. 2021;121(02):242–245. doi:10.1055/s-0040-1715647
   PubMed Web of Science ®Google Scholar
• Campello E, Spiezia L, Simion C, et al. Direct oral anticoagulants in patients with inherited thrombophilia and venous thromboembolism: a prospective study. J Am Heart Assoc. 2020;9(23):e018917. doi:10.1161/JAHA.120.018917
   PubMed Web of Science ®Google Scholar
• O’Brien JR, Etherington MD. Effect of heparin and warfarin on antithrombin III. Lancet. 1977;2(8050):1231.
   PubMed Web of Science ®Google Scholar
• Sanfelippo MJ, Engel JM, Onitilo AA. Antithrombin levels are unaffected by warfarin. Arch Pathol Lab Med. 2014;138(7):967–968. doi:10.5858/arpa.2013-0065-OA
   PubMed Web of Science ®Google Scholar
• Grover SP, Hisada YM, Kasthuri RS, Reeves BN, Mackman N. Cancer therapy-associated thrombosis. Arterioscler Thromb Vasc Biol. 2021;41(4):1291–1305. doi:10.1161/ATVBAHA.120.314378
   PubMed Web of Science ®Google Scholar
• Moik F, van Es N, Posch F, et al. Gemcitabine and platinum-based agents for the prediction of cancer associated venous thromboembolism: results from the Vienna cancer and thrombosis study. Cancers. 2020;12(9):2493. doi:10.3390/cancers12092493
   PubMed Web of Science ®Google Scholar
• Seng S, Liu Z, Chiu SK, et al. Risk of venous thromboembolism in patients with cancer treated with Cisplatin: a systematic review and meta-analysis. J Clin Oncol. 2012;30(35):4416–4426. doi:10.1200/JCO.2012.42.4358
   PubMed Web of Science ®Google Scholar
• Marco A, Marco P. Von Willebrand factor and ADAMTS13 as clinical severity markers in patients with COVID-19. J Thromb Thrombolysis. 2021;52(2):497–503. doi:10.1007/s11239-021-02457-9
   PubMed Web of Science ®Google Scholar
• Luxembourg B, Pavlova A, Geisen C, et al. Impact of the type of SERPINC1 mutation and subtype of antithrombin deficiency on the thrombotic phenotype in hereditary antithrombin deficiency. Thromb Haemost. 2014;111(2):249–257. doi:10.1160/TH13-05-0402
   PubMed Web of Science ®Google Scholar
• Li X, Haddadin I, McLennan G, et al. Inferior vena cava filter: comprehensive overview of current indications, techniques, complications and retrieval rates. Vasa. 2020;49(6):449–462. doi:10.1024/0301-1526/a000887
   PubMed Web of Science ®Google Scholar
• Ferro JM, Bousser GM, Canhao P, et al. European Stroke Organization Guidelines for the diagnosis and treatment of cerebral venous thrombosis. Europ Stroke Journal. 2017;2(3):195–221. doi:10.1177/2396987317719364
   PubMedGoogle Scholar
• Siddiqui FM, Dandapat S, Banerjee C, et al. Mechanical thrombectomy in cerebral venous thrombosis: systematic review of 185 cases. Stroke. 2015;46(5):1263–1268. doi:10.1161/STROKEAHA.114.007465
   PubMed Web of Science ®Google Scholar
• Gandrille S, Vidaud D, Emmerich J, et al. Molecular basis for hereditary antithrombin III quantitative deficiencies: a stop codon in exon IIIa and a frameshift in exon VI. Br J Haematol. 1991;78(3):414–420. doi:10.1111/j.1365-2141.1991.tb04457.x
   PubMed Web of Science ®Google Scholar
• Abou-Ismail MY, Sridhar DC, Nayak L. Estrogen and thrombosis: a bench to bedside review. Thromb Res. 2020;192:40–51. doi:10.1016/j.thromres.2020.05.008
   PubMed Web of Science ®Google Scholar
• Canonico M, Oger E, Plu-Bureau G, et al. Hormone therapy and venous thromboembolism among postmenopausal women. Circulation. 2007;115(7):840–845. doi:10.1161/CIRCULATIONAHA.106.642280
   PubMed Web of Science ®Google Scholar
• Alhenc-Gelas M, Canonico M, Picard V. Influence of natural SERPINC1 mutations on ex vivo thrombin generation. J Thromb Haemost. 2010;8(4):845–848. doi:10.1111/j.1538-7836.2010.03750.x
   PubMed Web of Science ®Google Scholar
• Yoo JH, Maeng HY, Kim HJ, Lee KA, Choi JR, Song J. A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency. Ann Clin Laboratory Sci. 2011;41:89–92.
   PubMed Web of Science ®Google Scholar
• De la Morena Barrio ME, López-Gálvez R, Martínez-Martínez I, et al. Defects of splicing in antithrombin deficiency. Res Pract Thromb Haemost. 2017;1(2):216–222. doi:10.1002/rth2.12025
   PubMed Web of Science ®Google Scholar
• Human Gene Mutation Database (HGMD) [homepage on the Internet]; 2023. Available from: www.hgmd.cf.ac.uk. Accessed August 24, 2023.
   Google Scholar